For Matthew and Brianne Wojtesta, it all started about a week after the birth of their daughter Vera. Matthew was picking up his son from kindergarten when he got a phone call.

It was their pediatrician, with some shocking news. Vera had been flagged by New York's newborn screening program as possibly having a potentially deadly disease, and would need to go see a neurologist the next day.

Like every state, New York requires that newborns get a small heel prick so that a few drops of blood can be sent to a lab for testing. The idea is to catch health problems that could cause death or disability without early intervention.

But in recent years, patient advocacy groups have been pushing states to adopt mandatory newborn screening for more and more diseases, including ones that have no easy diagnosis or treatment.

One of those is Krabbe disease, a rare and devastating neurological disorder.

In 2006, New York became the first state to screen for Krabbe, and until recently it was the only state to do so. Screening for this disease is expanding, even though some experts say the treatment available doesn't seem to help affected children as much as was initially hoped — and testing can put some families in a kind of fearful limbo.

New York has screened nearly 2 million children for Krabbe. About 300 have been picked out as needing follow-up tests and evaluation to see if they really have the disease. One of those was Vera Wojtesta.

After getting that disturbing news, Matthew Wojtesta went to the family's home in Rochester, where his wife was still recuperating from childbirth. Brianne remembers that he sat on the bed and woke her up very gently, putting his hand on her knee and saying, "You know, honey, the doctor just called ... "

That night, after their older children were sleeping, they got on the Internet and read and read. It was terrifying to learn what Krabbe can do to a child.

Babies with Krabbe have an enzyme deficiency that damages a coating around nerves called myelin. At first, babies with the disease seem normal. But then everything starts to change — and without screening, families become desperate as they struggle to figure out what's wrong.

Angel Custer and Anthony Shaffer had that awful experience. They are "Grammy" and "Pappy" to Jaylah Donaire-Bechtel, Custer's 20-month-old granddaughter. She lives with them in Harrisburg, Pa.

When Jaylah was a few months old, she stopped drinking from her bottle because she couldn't suck on it. She was screaming in pain almost nonstop. "She stopped smiling, she stopped laughing," says Custer. "We lost all that."

By the time a doctor diagnosed Krabbe disease, it was too late for any treatment. Jaylah can't move her arms or legs. She can't sit up or talk. She can't even swallow her own spit — someone has to suction it out with a tube, many times an hour.

Custer and Shaffer work staggered shifts so they can care for Jaylah around the clock. They try to help her experience everything she can. She eats through a tube, but they let her taste pickles and olives, and give her Dum Dum lollipops. Jaylah watches cartoons like Dora and SpongeBob, and Shaffer gives her elaborate manicures.

But like other children with Krabbe, Jaylah will eventually go deaf and blind and then die. "I always said you wouldn't put your dog through that. But we've got to watch our child go through that," says Custer.

That's why Custer has been urging lawmakers in her state to follow the lead of New York.

The New York screening program really only began because of Jim Kelly, a former Buffalo Bills quarterback who is in the Pro Football Hall of Fame. After his son, Hunter, was diagnosed with Krabbe, Kelly and his family started a foundation called Hunter's Hope.

In 2005, physicians published an article in the New England Journal of Medicine on using umbilical cord blood transplants to treat newborns with Krabbe. Babies who survived this risky treatment did much better than babies who got no treatment. But the transplant had to be done before symptoms appeared. And babies were only being diagnosed that early if they had an older sibling who previously had developed Krabbe, revealing that the disease ran in the family.

With a viable treatment suddenly available, the Hunter's Hope Foundation convinced New York officials that every newborn in the state should be tested.

"I was frankly amazed when it went through. I really never thought they'd be able to do it," says Dr. Patricia Duffner, a neurologist who was working at the University at Buffalo School of Medicine when she diagnosed Hunter Kelly in 1997.

"I didn't realize how complicated it was going to be," says Duffner. "None of us realized how complicated it was going to be."

Because the disease is so rare, there was a lot that doctors didn't know. One thing was clear: There are different forms of Krabbe. The early infantile form hits babies, but late-onset forms of Krabbe can start in childhood, the teen years or even decades into adulthood.

Duffner says a consortium of experts in New York had to quickly come up with an approach that would let them identify newborns with the severe, early form that requires urgent action.

"No one else had done it prior to New York state," says Michele Caggana, director of the state's newborn screening program. "And so there wasn't really demonstration, at least early on, that the screening test actually worked or that it could be done."

The state lab in Albany checks a baby's enzyme level, and if it's below a certain cutoff, the lab also examines part of the baby's DNA. Then these initial screening results are sent to a specialist who meets with the family and evaluates the infant.

Brianne and Matthew Wojtesta didn't sleep much as they waited for Vera's neurology appointment.

"I think the scariest part was that they are asymptomatic at the very beginning," says Brianne. Vera looked so healthy. But if Vera had Krabbe, they'd have to fly her to specialists at Duke University in North Carolina for an irreversible procedure that she might not survive.

They went to the University of Rochester Medical Center, where a neurologist, Dr. Jennifer Kwon, had their lab results. She told them that what was seen in Vera's DNA probably meant she's just a carrier who did not actually have the disease.

"I didn't think it was going to be a difficult situation at all," says Kwon. But she couldn't be sure until she ran more tests.

The parents spent an anxious week waiting for the results. "We talked a lot, we cried, we read science," says Matthew.

To their great relief, the tests showed Vera does not have any form of Krabbe.

In this case, Kwon says, she could be reassuring. But for other families, she can't.

When doctors run DNA tests and see genetic mutations, it's not clear what they all mean. There is one mutation strongly associated with the early infantile form of Krabbe, but many other mutations are a mystery.

With ambiguous test results, sometimes Kwon has to tell parents that it's possible that their child may develop some form of Krabbe at some point. "But I can't tell you when, I can't tell you what it's going to look like. I can't tell you if there's any way to prevent it. And I can't tell you that we will be able to treat it if it develops," says Kwon. "So that's very difficult for families to hear."

She says they're often angry and scared. Now, as they watch their children grow up, they're haunted by the thought of this terrible disease. This has happened to dozens of families in New York. None of these kids has shown any symptoms, as far as anyone knows.

And when the screening program does find unmistakable signs of infant Krabbe, the treatment has turned out to be problematic as well. Five infants in New York have been candidates for cord blood transplants. One family refused. Four babies got treatment. Two of them died of complications. One child is severely neurologically impaired. And one child has had problems but has been able to start kindergarten.

All of this has left Kwon feeling like the benefits do not outweigh the potential harms.

"No one should be screening for disorders that are this difficult," Kwon says. She wants to help children and doesn't want Krabbe to exist, but she is not convinced that newborn screening is the way to make it go away.

She's not the only one who takes this view.

"My heart goes out to any parent who is going to have a child with this diagnosis. It is a devastating diagnosis. But just because parents are desperate doesn't mean that we should offer them things that actually aren't going to help," says Dr. Lainie Friedman Ross, a medical ethicist at the University of Chicago.

With so many unknowns, newborn screening for Krabbe has to be seen as research, Ross says. And, she points out, it's unethical to enroll people in a research experiment without their consent. If states want to try screening newborns for Krabbe, she says, they should first get parents' permission, instead of simply requiring the test by law.

"When we think of a public health mandate, we think about something for which early testing and screening is going to prevent morbidity and mortality," says Ross. "We don't think of creating individuals for whom we say we don't know if this is a health problem, we don't know when it will be a health problem."

It can be wrenching for parents who get false positives or uncertain results from newborn screening, says Stefan Timmermans, a sociologist at the University of California, Los Angeles, who has studied families' reactions to screening for rare disorders.

"You have completely changed the experience of having a baby. You have completely changed what it means to have a newborn," he says. "Rather than looking at your little bundle of joy and smiling, you are looking at a child as if he or she can die at any moment."

But some doctors do support Krabbe screening. Dr. Maria Escolar, a Krabbe specialist at Children's Hospital of Pittsburgh, says that even if the available treatment isn't perfect, "families develop relationships with their children, and no matter what degree of disability they have, they treasure each day that they are spending with their children."

And without screening, undiagnosed babies with Krabbe will suffer, she says. They won't get the right drugs to ease pain and other symptoms until doctors finally figure out that they have this uncommon disease.

"It is a terrible thing to see. And when you experience that, when you live that, that's when you realize how important newborn screening is," says Escolar.

The small group of families whose children have lived is the driving force behind an expansion of Krabbe screening.

Missouri started last year and has found a half-dozen ambiguous cases with test results that suggest a risk of some form of this disease.

New Jersey and Illinois will start screening next year, and New Mexico has decided to do it, too.

Christina Levasheff is trying to get her home state, California, to start screening. Levasheff and her husband lost their son Judson to Krabbe. He seemed perfectly healthy until he was about 2 1/2 years old. Then he began to have symptoms, and within five months he could no longer speak, move or see.

Levasheff, who lives in Orange County, says she first heard of newborn screening for Krabbe after Judson had passed away. Thinking back to the days before Krabbe struck her son, she asked herself: "Would I have wanted to know that he had this disease?"

She decided that the answer is yes. "When you have a child that's going to face a terminal disease," she says, "do you want knowledge and options and choice, or do you want it to just happen to you?"

Levasheff says screening is needed because all efforts to find new treatments for Krabbe in the future are going to depend on knowing about this progressive disease before symptoms appear.

"Children are not being screened for Krabbe at birth and dying because of it. And they die a very slow and painful death," says Anna Grantham, who runs the foundation's newborn screening effort.

In 2009, an expert committee that advises the federal government looked at New York's results and did not recommend that all states adopt it. Grantham says she hopes the committee will revisit that decision, but that will take time. "We feel like there's not time to wait for that, because lives are being lost," says Grantham.

Brianne and Matthew Wojtesta say they don't know if mandated screening is the right way to handle all of these difficult issues. They personally were glad for the testing, even though they also say it was traumatic.

Brianne says for her, the fear lingers, even though the good news they got about Vera was the best possible outcome.

"What part of this disease do we not know, what part of the genetic composition do we not know, what about the late onset?" she wonders. "Irrationally, I know, it still hangs over me. It's still scary."

The experience has changed her, and she says it will forever be a part of her relationship with her daughter.

Copyright 2013 NPR. To see more, visit http://www.npr.org/.

Transcript

STEVE INSKEEP, HOST:

It's MORNING EDITION, from NPR News. I'm Steve Inskeep.

DAVID GREENE, HOST:

And I'm David Greene. Good morning.

Today, in Your Health, we're taking a closer look at newborn screening. Every time a baby is born in this country, a few drops of blood from a small heel prick are sent to a lab for testing. The idea is to catch health problems that could cause death or disability without early intervention. In recent years, states have started screening for more and more diseases.

NPR's Nell Greenfieldboyce reports on mandatory testing for a disease that has no easy diagnosis or treatment.

NELL GREENFIELDBOYCE, BYLINE: For Matthew Wojtesta, it all started about a week after the birth of his daughter Vera. He was picking up his son from kindergarten when he got a phone call.

MATTHEW WOJTESTA: It was our pediatrician who called and said: So, you've been scheduled to go in and meet Dr. Kwon from Neurology. And I said: I have? And he said, yeah.

GREENFIELDBOYCE: The pediatrician explained that Vera had been flagged by New York's newborn screening program as possibly having a serious disease.

WOJTESTA: I said: Well, which one? And he was quite cagey at first.

GREENFIELDBOYCE: The doctor said you'll find out at the appointment. If I tell you now, you'll just panic. But Matthew insisted. Finally, the doctor said: Vera's blood test had shown signs that she might have Krabbe disease, a rare neurological disorder. Matthew went home, where his wife Brianne was napping. She remembers that he gently woke her up.

BRIANNE WOJTESTA: And put his hand on my knee and said, you know, honey, the doctor just called.

GREENFIELDBOYCE: That night, they got on the Internet and read and read. It was terrifying to learn what Krabbe can do to a child.

(SOUNDBITE OF MUSIC)

GREENFIELDBOYCE: To understand how bad this disease can be, meet Jaylah. She lives in Harrisburg, Pennsylvania with her grammy and her pappy. She's almost two years old and has dark brown hair. She's snoozing on a couch in front of a muted TV that's showing cartoons. There's an oxygen tube in her nose, and one just like it in the nose of her stuffed animal.

ANGEL CUSTER: That is her monkey. Her monkey plays music. She sleeps with that. That gets placed in between her arms.

GREENFIELDBOYCE: Angel Custer says her granddaughter can't move her arms or legs. She can't sit up or talk. She can't even swallow her own spit. Someone has to suction it out with a tube.

(SOUNDBITE OF MACHINERY)

CUSTER: Do some more? No, OK.

GREENFIELDBOYCE: Jaylah seemed normal for the first few months of her life. Then she stopped taking her bottle. She started screaming in pain, nonstop.

CUSTER: She stopped smiling. She stopped laughing.

GREENFIELDBOYCE: No one knew she had Krabbe, because Pennsylvania, unlike New York, does not test newborns for this disease. It took months to figure out what was wrong. By then, it was too late for treatment. Jaylah will go deaf and blind, and then die.

CUSTER: I always said, you know, you wouldn't put your dog through that. But we've got to watch our child go through that.

GREENFIELDBOYCE: Jaylah's family says no one should suffer like this. That's why they recently brought Jaylah to the state capital, to convince lawmakers that Pennsylvania should follow New York's lead. New York was the first state to screen newborns for Krabbe.

(SOUNDBITE OF MACHINERY)

GREENFIELDBOYCE: Here in Albany, tiny blood samples are sent through machines.

MICHELE CAGGANA: This is the Krabbe lab.

GREENFIELDBOYCE: Michele Caggana is the director of the state's newborn screening program. She says for Krabbe, they check the level of an enzyme. If it's low, they run DNA tests. She says they've been doing this for over seven years.

CAGGANA: As of yesterday: 1,955,754 babies. So almost two million babies have been screened.

GREENFIELDBOYCE: Of those two million babies, about 300 have been picked out as possibly having Krabbe. One of them was Vera. After Brianne and Matthew Wojtesta got that phone call and read about children with Krabbe, they couldn't sleep.

WOJTESTA: The scariest part was that they are asymptomatic at the very beginning.

GREENFIELDBOYCE: Little Vera looked so healthy. But if she had Krabbe, she would immediately need a risky treatment: chemotherapy to destroy her bone marrow, then a cord blood transplant, probably at Duke University.

WOJTESTA: So we're looking at flying interstate with a brand new baby to try to do a completely radical transfusion.

GREENFIELDBOYCE: The next day's follow-up appointment was at the University of Rochester Medical Center. Neurologist Jennifer Kwon had their lab results. She told them that what was seen in Vera's DNA probably meant she was just a carrier, who did not actually have the disease.

JENNIFER KWON: I didn't think it was going to be a difficult situation at all.

GREENFIELDBOYCE: But Kwon couldn't be sure until she ran more tests. Matthew says they spent an anxious week waiting for the results.

WOJTESTA: We talked a lot. We cried. We read science.

GREENFIELDBOYCE: In the end, the tests showed Vera did not have Krabbe. Kwon says, in this case, she could be reassuring. But for other families, she can't, because the diagnosis isn't simple. This disease doesn't only hit infants. There are forms that don't appear until later in childhood, the teen years or even adulthood. When scientists run tests and find genetic mutations, it's often unclear what they mean. Kwon sometimes has to tell parents, look, we just don't know. Your child may develop some form of Krabbe.

KWON: But I can't tell you when. I can't tell what it's going to look like. I can't tell you if there's any way to prevent it. And I can't tell you that we will be able to treat it if it develops. So that's very difficult for families to hear.

GREENFIELDBOYCE: And how do they react?

KWON: They're often very angry.

GREENFIELDBOYCE: And scared. Now, as they watch their children grow up, they're haunted by the thought of this terrible disease. This has happened to dozens of families. And when the screening program does find unmistakable signs of infant Krabbe, the treatment is problematic. Five infants in New York have been candidates for cord blood transplants. One family refused. Four babies got treatment. Two of them died of complications. One child is severely neurologically impaired. And one child has had problems, but has been able to start kindergarten.

So, here is the stark question posed by Krabbe screening: To try to help a small number of children who will still face an uncertain future, is it worth putting other families in a fearful limbo for years?

Kwon says no.

KWON: No one should be screening for disorders that are this difficult.

GREENFIELDBOYCE: But some doctors do support screening. Maria Escolar is a Krabbe expert at Children's Hospital of Pittsburgh. She says even if treatment isn't perfect...

MARIA ESCOBAR: You know families develop relationships with their children no matter what degree of disability they have, they treasure each day that they are spending with their children.

GREENFIELDBOYCE: And she says, without screening, babies with Krabbe often go months without a diagnosis. That means the baby doesn't get the right drugs to ease pain, the family is desperate.

ESCOBAR: It is a terrible thing to see, and when you experience that, when you live that, that's when you realize how important newborn screening is.

GREENFIELDBOYCE: The small group of families who have lived that are the driving force behind an expansion of Krabbe screening. Missouri started last year, New Jersey and Illinois will start next year, and New Mexico has decided to do it too. The reason New York started this controversial program was because of a family -the family of Jim Kelly, a former Buffalo Bills quarterback who's in the NFL Hall of Fame. His son had Krabbe. A foundation named after him, called Hunter's Hope, wants testing in every state, even though an expert committee that advises the federal government looked at New York's results and did not recommend that.

Vera's parents, Brianne and Matthew Wojtesta, say they don't know if mandated screening is the right way to go. They personally were glad for the testing, even though Brianne also says it was traumatic, and the fear lingers.

WOJTESTA: What part of this disease do we not know, what part of the genetic composition do we not know, what about the late onset? Irrationally, I know, it still hangs over me. It's still scary.

GREENFIELDBOYCE: She says the experience has changed her. And it will forever be a part of her relationship with her daughter.